Current opinion in pediatrics
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Curr. Opin. Pediatr. · Dec 2003
ReviewUnraveling the Hallervorden-Spatz syndrome: pantothenate kinase-associated neurodegeneration is the name.
After the recent discovery of the major genetic defect in neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome), this heterogeneous group of disorders can now be differentiated by clinical, radiographic, and molecular features. ⋯ Recent insight into the biochemical basis of PKAN has led to novel ideas for rational therapies. Investigations are under way to enable testing of promising compounds, first in animal models of disease and then in human patients. Identification of the genetic basis for the major form of NBIA has allowed more accurate clinical delineation of the specific diseases that compose this group, a new molecular diagnostic test for PKAN, and hypotheses for treatment of this neurodegenerative disorder.